755 results match your criteria: "e Eunice Kennedy Shriver National Institute of Child Health and Human Development.[Affiliation]"

Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer.

N Engl J Med

December 2024

From the Prenatal Genomics and Therapy Section, Center for Precision Health Research (A.E.T., D.W.B.), and the Section on Social Network Methods, Social and Behavioral Research Branch (J.L.), National Human Genome Research Institute, the Women's Malignancies Branch (C.M.A., I.S.G., P.S.R.) and the Cancer Data Science Laboratory (P.S.R.), Center for Cancer Research, National Cancer Institute, Radiology and Imaging Sciences, Clinical Center (A.A.M., B.R.), and the Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.W.B.), National Institutes of Health, Bethesda, and Leidos Biomedical Research, Frederick (M.P.) - both in Maryland.

Background: Cell-free DNA (cfDNA) sequence analysis to screen for fetal aneuploidy can incidentally detect maternal cancer. Additional data are needed to identify DNA-sequencing patterns and other biomarkers that can identify pregnant persons who are most likely to have cancer and to determine the best approach for follow-up.

Methods: In this ongoing study we performed cancer screening in pregnant or postpartum persons who did not perceive signs or symptoms of cancer but received unusual clinical cfDNA-sequencing results or results that were nonreportable (i.

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Thyroid hormone receptor- and stage-dependent transcriptome changes affect the initial period of Xenopus tropicalis tail regeneration.

BMC Genomics

December 2024

Section On Molecular Morphogenesis, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.

Background: Thyroid hormone (T3) has an inhibitory effect on tissue/organ regeneration. It is still elusive how T3 regulates this process. It is well established that the developmental effects of T3 are primarily mediated through transcriptional regulation by thyroid hormone receptors (TRs).

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Study Question: To what extent are self-reported diagnoses of food allergies associated with fecundability, the per-cycle probability of conception?

Summary Answer: Fecundability was not appreciably associated with self-reported food allergy diagnoses, number of food allergies, age at first diagnosis, or time since last allergic reaction.

What Is Known Already: Food allergies are atopic diseases that are characterized by an inappropriate immune response to a normally harmless dietary substance. While some studies have observed associations between atopic disorders and infertility, no study has examined the association between food allergies and fecundability, the per-cycle probability of conception.

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Background: Evidence suggests that the intrauterine environment shapes offspring cardiovascular disease risk. Although placental dysfunction may be an important pathophysiologic pathway, numerous parental and pregnancy characteristics that influence offspring blood pressure are strong confounders of the mechanistic role of the placenta in observational analyses of singletons. Therefore, we leverage twin- and sibling-based comparison designs to determine whether placental pathology is associated with offspring blood pressure at age 7 while mitigating major sources of confounding.

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Evaluation of dimethandrolone undecanoate in non-human primates as a candidate for long-acting injectable male contraceptive.

Andrology

December 2024

Contraceptive Development Program, Division of Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Health, Bethesda, Maryland, USA.

Background: Dimethandrolone undecanoate (DMAU) is under development as a single agent hormonal male contraceptive. DMAU is a prodrug hydrolyzed by esterase(s) to the active metabolite dimethandrolone (DMA) which has dual androgenic and progestogenic actions. Phase 1 clinical trial results show DMAU to be well-tolerated as an oral contraceptive in healthy men; however, delivery of DMAU as a long-acting injectable rather than a daily oral formulation would provide user compliance benefits and address oral bioavailability concerns.

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An update on epigenetic mechanisms in endometriosis.

Minerva Obstet Gynecol

December 2024

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

The etiopathogenesis of endometriosis, a chronic debilitating disease affecting nearly 10% of women, has evaded elucidation until the recent epigenetic discoveries. Although still deemed multifactorial, endometriosis is likely predisposed in women with genetic and epigenetic alterations, which are activated by environmental factors. There are many epigenetic changes that have recently been associated with endometriosis: DNA methylation and phosphorylation, modifications to histones and non-coding RNA, and chromatin remodeling and organization.

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is an obligate intracellular parasite, and the delivery of effector proteins from the parasite into the host cell during invasion is critical for invasion itself and for parasite virulence. The effector proteins are released from specialized apical secretory organelles known as rhoptries. While much has been learned recently about the structure and composition of the rhoptry exocytic machinery and the function of individual rhoptry effector proteins that are exocytosed, virtually nothing is known about how the released proteins are translocated across the host cell plasma membrane.

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Tissue-mimicking reference phantoms are indispensable for the development and optimization of magnetic resonance (MR) measurement sequences. Phantoms have greatest utility when they mimic the MR signals arising from tissue physiology; however, many of the properties underlying these signals, including tissue relaxation characteristics, can vary as a function of magnetic field strength. There has been renewed interest in magnetic resonance imaging (MRI) at field strengths less than 1 T, and phantoms developed for higher field strengths may not be physiologically relevant at these lower fields.

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Cell-cell fusion: To lose one life and begin another.

Bioessays

November 2024

Section on Membrane Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

As life extended into eukaryota, a great host of strategies emerged in the pursuit of cellular life. Some cells have been successful in solitude, some moved into cooperatives (i.e.

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Socioeconomic mobility, metabolic health, and diet: mediation via subjective socioeconomic status.

Obesity (Silver Spring)

November 2024

Social and Behavioral Sciences Branch, Division of Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Objective: Socioeconomic mobility, i.e., changing socioeconomic status (SES) between adolescence and adulthood, may impact health through changing resources, social status, and health-related behaviors.

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Article Synopsis
  • Limited research exists on how per- and polyfluoroalkyl substances (PFAS) impact bone mineral density (aBMD) during adolescence and whether factors like physical activity and dairy intake can mitigate these effects.
  • A study within the Project Viva cohort analyzed the relationship between PFAS levels in mid-childhood and aBMD Z-scores in early and late adolescence, finding that higher levels of specific PFAS, like PFOA and PFDA, were associated with lower aBMD in females and some males.
  • The findings suggest that greater physical activity and dairy consumption may provide some protective effects against the negative impact of PFAS on bone accrual through adolescence.
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Objective: To identify differentially methylated regions and assess epigenetic age and instability scores within each cohort of differing income levels and educational attainment.

Design: Retrospective analysis of epigenetic data.

Setting: University.

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Article Synopsis
  • Studies on children conceived through assisted reproductive technologies (ART) like IVF and ICSI have shown inconsistent results regarding their blood pressure compared to naturally conceived children.
  • This systematic review and meta-analysis aimed to clarify whether ART leads to higher blood pressure, which has important public health implications.
  • Out of 5082 records, 79 studies were reviewed, finding no significant differences in systolic or diastolic blood pressure between ART and non-ART groups, although results showed considerable variability.
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Article Synopsis
  • The IRDiRC Telehealth Task Force investigated how telehealth can enhance diagnosis, care, research, and education related to rare diseases by reviewing literature from 2017 to 2023 and identifying effective models and strategies.
  • The COVID-19 pandemic significantly boosted the adoption of telehealth, highlighting its ability to overcome geographical barriers and improve access to specialized care for rare disease patients.
  • While telehealth presents several benefits, such as decentralized clinical research and enhanced education for local healthcare providers, it also has limitations, including challenges in performing physical exams and building personal relationships with healthcare professionals, thus suggesting it should complement traditional care rather than replace it.
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Stress, such as neuroexcitotoxicity and oxidative stress, as well as traumatic brain injury, will result in neurodegeneration. Deciphering the mechanisms underlying neuronal cell death will facilitate the development of drugs that can promote neuronal survival and repair through neurogenesis. Many growth and trophic factors, including transforming growth factors (TGFs), insulin-like growth factors (IGFs), epidermal growth factor (EGF), fibroblast growth factor 2 (FGF2), and brain-derived neurotrophic factor (BDNF), are known to play a role in neuroprotection and neurogenesis.

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Article Synopsis
  • Pregnant moms who feel stressed can affect the growth and development of their babies, especially in male babies.
  • Scientists studied tiny particles called small extracellular vesicles (sEVs) in the mom's blood, which might carry stress signals to the baby.
  • The research found that stressed moms had different types of proteins in their sEVs, and these particles seemed to affect the baby's tissues more when the mom was stressed.
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Primary fibroblasts from six individuals with CLN3-related conditions were used to generate induced pluripotent stem cell (iPSC) lines CHDTRi001-B, CHDTRi002-B, CHDTRi003-A, CHDTRi004-B, CHDTRi005-A, and CHDTRi006-E through the expression of four reprogramming factors: human OCT3/4, KLF4, SOX2, and c-MYC. The iPSC lines were characterized to confirm their pluripotency via immunocytochemistry, flow cytometry, and teratoma formation. Genomic stability, cell line identity, and CLN3 genotype were confirmed.

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CHARMM at 45: Enhancements in Accessibility, Functionality, and Speed.

J Phys Chem B

October 2024

Harvard University, Department of Chemistry and Chemical Biology, Cambridge, Massachusetts 02138, United States.

Since its inception nearly a half century ago, CHARMM has been playing a central role in computational biochemistry and biophysics. Commensurate with the developments in experimental research and advances in computer hardware, the range of methods and applicability of CHARMM have also grown. This review summarizes major developments that occurred after 2009 when the last review of CHARMM was published.

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Background: Perinatal depression has been suggested to adversely impact child neurodevelopment. However, the complexity of the early childhood environment challenges conclusive findings.

Objective: To evaluate whether there is an association between perinatal depressive symptoms and child intelligence quotient (IQ) at 5 years of age.

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Article Synopsis
  • - X-linked acrogigantism (X-LAG) is a serious genetic condition caused by duplications on chromosome X that affect the GPR101 gene, leading to excessive growth due to misexpression of this gene in the pituitary gland.
  • - The researchers used advanced genomic techniques, specifically 4C/HiC-seq, to examine the impact of GPR101 duplications on the functional structure of the genome in families with these duplications, finding that some did not create harmful changes.
  • - The study emphasizes the significance of chromatin interactions and boundaries in understanding genetic disorders and demonstrates the utility of 4C/HiC-seq in genetic counseling and clinical decision-making for suspected TADopathies.
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The significance of fuzzy boundaries of the barrier regions in single-molecule measurements of failed barrier crossing attempts.

J Chem Phys

September 2024

Department of Chemistry and Oden Institute for Computational Engineering and Sciences, University of Texas at Austin, Austin, Texas 78712, USA.

A recent ground-breaking experimental study [Lyons et al., Phys. Rev.

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Target trial emulation of preconception serum vitamin D status on fertility outcomes: a couples-based approach.

Fertil Steril

August 2024

Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Department of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

Objective: To evaluate associations between preconception 25-hydroxyvitamin D (25(OH)D) levels and biomarkers in female and male partners on live birth (LB), pregnancy loss, and semen quality.

Design: Secondary analysis using the folic acid and zinc supplementation trial of couples seeking infertility treatment at four US centers (2013-2017). A target trial emulation framework was applied to estimate associations.

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International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Nat Rev Endocrinol

December 2024

Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

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